Thalassemia gene detection and investigate in Dongguan
10.3969/j.issn.1673-4130.2016.09.031
- VernacularTitle:东莞地区珠蛋白生成障碍性贫血筛查及基因谱分析
- Author:
Jinhuan SHAO
;
Xiang XIAO
;
Daxiu ZHANG
;
Yangqing ZHONG
- Publication Type:Journal Article
- Keywords:
thalassemia;
genotypes;
epidemiological investigation
- From:
International Journal of Laboratory Medicine
2016;37(9):1230-1231
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the type of gene mutation and its distribution in patients with thalassemia in Dongguan . Methods 7 845 specimens collected from the patients and individuals with physical examination in our hospital from June 2014 to May 2015 were performed according to the results of routine blood and electrophoresis screening with suspected cases .The speci‐mens with phenotype positive were definitely verified the thalassemia type by using Gap‐PCR and reverse dotblot(RDB) .Results Among 7 845 specimens ,suspected cases of 1 132 cases ,662 specimens were finally diagnosed as α‐thalassemia andβ‐thalassemia , with the thalassemia carrying rate of 8 .44% (662/7 845) ,including 412 cases(5 .25% ) of a‐thalassemia .The most common type ofαα/‐‐SEA ,‐α3 .7/ααaccounted for 61 .17% and 17 .48% inα‐thalassemia ,also detected HKαα/‐‐SEA mixed type in 1 case and 250 cases(3 .19% ) ofβ‐thalassemia cases .The most common type ofβCD41‐42/βN ,βIVS‐Ⅱ‐654/βN ,βCD17/βN accounted for 37 .6% , 23 .2% ,16 .0% inβ‐thalassemia .The α‐thalassemia composite β‐thalassemia for 12 cases(0 .18% ) .Conclusion Dongguan city of Guangdong province is a high incidence area of thalassemia .Premarital examination ,genetic counseling should be strengthened ,and reduce the birth rate of the thalassemia children to improve the quality of the population .
